U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    DONSON DNA replication fork stabilization factor DONSON [ Homo sapiens (human) ]

    Gene ID: 29980, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    DONSONprovided by HGNC
    Official Full Name
    DNA replication fork stabilization factor DONSONprovided by HGNC
    Primary source
    HGNC:HGNC:2993
    See related
    Ensembl:ENSG00000159147 MIM:611428; AllianceGenome:HGNC:2993
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B17; MIMIS; MISSLA; C21orf60
    Summary
    This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 22.3), urinary bladder (RPKM 14.4) and 23 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See DONSON in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33577551..33588684, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31959392..31970473, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34949857..34960990, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:34903402-34904601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34914753-34915484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13261 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene microRNA 6501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178 Neighboring gene SON DNA and RNA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene crystallin zeta like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene intersectin 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation. Kingsley G, et al. Nucleic Acids Res, 2023 Oct 13. PMID 37638758, Free PMC Article
    2. Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation. Hashimoto Y, et al. EMBO J, 2023 Sep 4. PMID 37458194, Free PMC Article
    3. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Knapp KM, et al. J Med Genet, 2020 Mar. PMID 31784481, Free PMC Article
    4. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Karaca E, et al. Am J Med Genet A, 2019 Oct. PMID 31407851, Free PMC Article
    5. Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. Danyel M, et al. Eur J Hum Genet, 2019 Dec. PMID 31320746, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
      Title: DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
    2. DONSON is required for CMG helicase assembly in the mammalian cell cycle.
      Title: DONSON is required for CMG helicase assembly in the mammalian cell cycle.
    3. Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation.
      Title: Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation.
    4. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
      Title: Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
    5. Circ-DONSON promotes malignant progression of glioma through modulating FOXO3.
      Title: Circ-DONSON promotes malignant progression of glioma through modulating FOXO3.
    6. DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
      Title: DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
    7. four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly, were identified.
      Title: Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
    8. we present the clinical data of siblings with microcephaly, short stature, and limb abnormalities syndrome (MISSLA) featuring a novel DONSON variant and summarize the current literature on MISSLA.
      Title: Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
    9. the antitumor miR-101-5p/DONSON axis and its modulated replisome genes might be a novel diagnostic and therapeutic target for clear cell renal cell carcinoma
      Title: Replisome genes regulation by antitumor miR-101-5p in clear cell renal cell carcinoma.
    10. Aberrant splicing and a noncoding mutation in DONSON gene is the cause of microcephaly-micromelia syndrome
      Title: Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Microcephaly, short stature, and limb abnormalities
    MedGen: C4539873 OMIM: 617604 GeneReviews: Not available
    		Compare labs
    Microcephaly-micromelia syndrome
    MedGen: C1855079 OMIM: 251230 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • DKFZp434M035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic DNA replication checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in replication fork IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of replisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    protein downstream neighbor of Son
    Names
    downstream neighbor of SON

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017613.4 → NP_060083.1  protein downstream neighbor of Son

      See identical proteins and their annotated locations for NP_060083.1

      Status: VALIDATED

      Source sequence(s)
      AP000304, BC048266, BI463648, BM451848, BM679236
      Consensus CDS
      CCDS13632.1
      UniProtKB/Swiss-Prot
      Q8NC53, Q9NSR9, Q9NVZ5, Q9NYP1, Q9NYP2, Q9NYP3
      UniProtKB/TrEMBL
      F8W8A5
      Related
      ENSP00000307143.4, ENST00000303071.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33577551..33588684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31959392..31970473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145794.1: Suppressed sequence

      Description
      NM_145794.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

    2. NM_145795.1: Suppressed sequence

      Description
      NM_145795.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYP3.2 GenPept UniProtKB/Swiss-Prot:Q9NYP3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools